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MCID: KLP015
MIFTS: 6
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Klippel-Feil Syndrome 4
Categories:
Bone diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Klippel-Feil Syndrome 4:
Name: Klippel-Feil Syndrome 4
12
Classifications:External Ids:
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Disease Ontology :
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A Klippel-Feil syndrome that has material basis in homozygous mutation in the MYO18B gene on chromosome 22q12.
MalaCards based summary : Klippel-Feil Syndrome 4 is related to klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism. An important gene associated with Klippel-Feil Syndrome 4 is MYO18B (Myosin XVIIIB). Affiliated tissues include bone. |
Diseases in the Klippel-Feil Syndrome family:Diseases related to Klippel-Feil Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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MalaCards organs/tissues related to Klippel-Feil Syndrome 4:40
Bone
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Genes related to Klippel-Feil Syndrome 4 (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Klippel-Feil Syndrome 4.
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